Knowledge base for genomic medicine in Japanese
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家族性高コレステロール血症
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | FH Vancouver 6 | LDLR | Pathogenic | 19 | 11213463 | 11221327 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_001299,OMIM:606945.0036 |
| Deletion | FH Paris 1 | LDLR | Pathogenic | 19 | 11216277 | 11218067 | na | na | criteria provided, single submitter | ClinGen:CA250468,LDLR-LOVD, British Heart Foundation:LDLR_001311,dbVar:nssv3761577,OMIM:606945.0027 |
| Deletion | c.(694+1_695-1)_(940+1_941-1)del | LDLR | Pathogenic | 19 | 11216277 | 11221327 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001095 |
| Deletion | c.(694+1_695-1)_(1586+1_1587-1)del | LDLR | Pathogenic | 19 | 11216277 | 11226769 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000121 |
| Deletion | c.(817+1_818-1)_(940+1_941-1)del | LDLR | Pathogenic | 19 | 11217364 | 11221327 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_000126 |
| Deletion | c.(817+1_818-1)_(1186+1_1187-1)del | LDLR | Pathogenic | 19 | 11217364 | 11223953 | na | na | criteria provided, multiple submitters, no conflicts | LDLR-LOVD, British Heart Foundation:LDLR_000957 |
| Deletion | c.(817+1_818-1)_(*2514_?)del | LDLR | Pathogenic | 19 | 11217364 | 11244506 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001312 |
| Deletion | c.(940+1_941-1)_(1060+1_1061-1)del | LDLR | Likely pathogenic | 19 | 11218191 | 11222189 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001313 |
| Duplication | c.(940+1_941-1)_(1186+1_1187-1)dup | LDLR | Likely pathogenic | 19 | 11218191 | 11223953 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001314 |
| Deletion | c.(940+1_941-1)_(1586+1_1587-1)del | LDLR | Pathogenic | 19 | 11218191 | 11226769 | na | na | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001315 |
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